Canonical Allele Identifier: CA411376883

Gene: CACNG2

Linked Data

• dbSNP Id: rs867189579
• gnomAD v3: 22-36564674-A-T
• gnomAD v4: 22-36564674-A-T
• MyVariant Identifiers: chr22:g.36960721A>T (hg19) ; chr22:g.36564674A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564674A>T , CM000684.2:g.36564674A>T	GRCh38
NC_000022.10:g.36960721A>T , CM000684.1:g.36960721A>T	GRCh37
NC_000022.9:g.35290667A>T	NCBI36
NG_031861.1:g.142970T>A
NG_031861.2:g.143185T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.649T>A MANE Select	ENSP00000300105.6:p.Tyr217Asn
ENST00000300105.6:c.649T>A	ENSP00000300105.6:p.Tyr217Asn
NM_006078.3:c.649T>A	NP_006069.1:p.Tyr217Asn
NM_006078.4:c.649T>A	NP_006069.1:p.Tyr217Asn
XM_017028531.2:c.391T>A	XP_016884020.1:p.Tyr131Asn
NM_001379051.1:c.580T>A	NP_001365980.1:p.Tyr194Asn
NM_006078.5:c.649T>A MANE Select	NP_006069.1:p.Tyr217Asn
NR_166440.1:n.2015T>A